rs730880096
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
Make rs730880096(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 127829788 |
Gene | ENG, LOC105379841 |
is a | snp |
is | mentioned by |
dbSNP | rs730880096 |
dbSNP (classic) | rs730880096 |
ClinGen | rs730880096 |
ebi | rs730880096 |
HLI | rs730880096 |
Exac | rs730880096 |
Gnomad | rs730880096 |
Varsome | rs730880096 |
LitVar | rs730880096 |
Map | rs730880096 |
PheGenI | rs730880096 |
Biobank | rs730880096 |
1000 genomes | rs730880096 |
hgdp | rs730880096 |
ensembl | rs730880096 |
geneview | rs730880096 |
scholar | rs730880096 |
rs730880096 | |
pharmgkb | rs730880096 |
gwascentral | rs730880096 |
openSNP | rs730880096 |
23andMe | rs730880096 |
SNPshot | rs730880096 |
SNPdbe | rs730880096 |
MSV3d | rs730880096 |
GWAS Ctlg | rs730880096 |
Max Magnitude | 4.3 |
ClinVar | |
---|---|
Risk | rs730880096(T;T) |
Alt | rs730880096(T;T) |
Reference | Rs730880096(C;C) |
Significance | Probable-Pathogenic |
Disease | Osler hemorrhagic telangiectasia syndrome |
Variation | info |
Gene | ENG |
CLNDBN | Osler hemorrhagic telangiectasia syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.130592067G>A |
CLNSRC | |
CLNACC | RCV000157221.2, |